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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-15109455-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=15109455&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 15109455,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032918.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.255C>A",
"hgvs_p": "p.Asp85Glu",
"transcript": "NM_032918.3",
"protein_id": "NP_116307.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 199,
"cds_start": 255,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256953.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032918.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.255C>A",
"hgvs_p": "p.Asp85Glu",
"transcript": "ENST00000256953.6",
"protein_id": "ENSP00000256953.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 199,
"cds_start": 255,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032918.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256953.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.255C>A",
"hgvs_p": "p.Asp85Glu",
"transcript": "ENST00000538313.5",
"protein_id": "ENSP00000441505.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 199,
"cds_start": 255,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538313.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.255C>A",
"hgvs_p": "p.Asp85Glu",
"transcript": "ENST00000536465.5",
"protein_id": "ENSP00000438280.1",
"transcript_support_level": 3,
"aa_start": 85,
"aa_end": null,
"aa_length": 199,
"cds_start": 255,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536465.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.255C>A",
"hgvs_p": "p.Asp85Glu",
"transcript": "ENST00000865193.1",
"protein_id": "ENSP00000535252.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 199,
"cds_start": 255,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865193.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.255C>A",
"hgvs_p": "p.Asp85Glu",
"transcript": "ENST00000865194.1",
"protein_id": "ENSP00000535253.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 199,
"cds_start": 255,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865194.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.255C>A",
"hgvs_p": "p.Asp85Glu",
"transcript": "ENST00000965375.1",
"protein_id": "ENSP00000635434.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 199,
"cds_start": 255,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965375.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.198C>A",
"hgvs_p": "p.Asp66Glu",
"transcript": "NM_001190726.2",
"protein_id": "NP_001177655.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 180,
"cds_start": 198,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190726.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.198C>A",
"hgvs_p": "p.Asp66Glu",
"transcript": "ENST00000546331.5",
"protein_id": "ENSP00000444485.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 180,
"cds_start": 198,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546331.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.294C>A",
"hgvs_p": "p.Asp98Glu",
"transcript": "ENST00000545567.5",
"protein_id": "ENSP00000439532.1",
"transcript_support_level": 3,
"aa_start": 98,
"aa_end": null,
"aa_length": 112,
"cds_start": 294,
"cds_end": null,
"cds_length": 340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545567.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.246C>A",
"hgvs_p": "p.Asp82Glu",
"transcript": "XM_047429797.1",
"protein_id": "XP_047285753.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 196,
"cds_start": 246,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"hgvs_c": "c.*109C>A",
"hgvs_p": null,
"transcript": "XM_047429798.1",
"protein_id": "XP_047285754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429798.1"
}
],
"gene_symbol": "RERG",
"gene_hgnc_id": 15980,
"dbsnp": "rs957228394",
"frequency_reference_population": 6.8410213e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84102e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9049311876296997,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.703,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.593,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032918.3",
"gene_symbol": "RERG",
"hgnc_id": 15980,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.255C>A",
"hgvs_p": "p.Asp85Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}